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Article

A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.

Human molecular genetics - 15 Dec 2012

Hekman Katherine E, Yu Guo-Yun, Brown Christopher D, Zhu Haipeng, Du Xiaofei, Gervin Kristina, Undlien Dag Erik, Peterson April, Stevanin Giovanni, Clark H Brent, Pulst Stefan M, Bird Thomas D, White Kevin P, Gomez Christopher M

Abstract excerpt

The autosomal dominant spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of disorders exhibiting cerebellar atrophy and Purkinje cell degeneration whose subtypes arise from 31 distinct genetic loci. Our group previously published the locus for SCA26 on chromosome 19p13.3. In this study, we performed targeted deep sequencing of the critical interval in order to identify candidate causative...

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Identifiers

PMID: 23001565
DOI: 10.1093/hmg/dds392
PMCID: PMC3516132

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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